J. Kaplan

发表

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, American journal of human genetics.

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

J. Weissenbach, A. Munnich, E. Souied, 1995, American journal of human genetics.

E. Souied, G. Soubrane, G. Coscas, 1997, Journal francais d'ophtalmologie.

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration.

A. Munnich, P. Amouyel, E. Souied, 1998, American journal of ophthalmology.

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

F. Sedel, D. Seidenwurm, N. Boddaert, 2009, Molecular genetics and metabolism.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

E. Souied, G. Soubrane, G. Coscas, 2001, Journal francais d'ophtalmologie.

A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.

A. Munnich, E. Souied, G. Soubrane, 1999, Investigative ophthalmology & visual science.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

J. Weissenbach, A. Munnich, H. Dollfus, 1996, Human Genetics.

Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness.

A. Munnich, E. Souied, J. P. Bonnefond, 1997, Ophthalmic genetics.

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

A. Munnich, A. Rötig, D. Rabier, 2009, Journal of Inherited Metabolic Disease.

Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.

K. Dry, A. Wright, S. Boyle, 1996, Genomics.

Evidence for a fourth locus in Usher syndrome type I.

A. Munnich, D. Bonneau, V. D. Der Kaloustian, 1996, Journal of medical genetics.

Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion.

A. Munnich, E. Souied, A. Rötig, 1998, American journal of ophthalmology.

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

D. Hunt, A. Bird, A. Moore, 1998, Human molecular genetics.

Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, Molecular genetics and metabolism.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

A. Smahi, A. Munnich, E. Souied, 1999, American journal of human genetics.

Structure and refinement of the physical mapping of the γ-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma

A. Munnich, E. Souied, P. Calvas, 1998, Cytogenetic and Genome Research.

No evidence of genetic heterogeneity in dominant optic atrophy.

J. Weissenbach, A. Munnich, E. Souied, 1995, Journal of medical genetics.

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

J. Weissenbach, A. Munnich, H. Chaib, 1997, Human molecular genetics.

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

D. Bonneau, H. Dollfus, J. Frézal, 1992, Genomics.

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

A. Munnich, N. Janin, J. Frézal, 1994, Journal of medical genetics.

ABCR gene analysis in familial exudative age-related macular degeneration.

A. Munnich, E. Souied, G. Soubrane, 2000, Investigative ophthalmology & visual science.

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

A. Munnich, E. Souied, G. Soubrane, 1999, Molecular genetics and metabolism.

A. Munnich, E. Souied, G. Soubrane, 1999, American journal of ophthalmology.

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

A Blankenagel, A. Munnich, F. Cremers, 1998, Genomics.

[Macular dystrophies].

E. Souied, G. Soubrane, G. Coscas, 2003, Journal francais d'ophtalmologie.

[Hereditary macular dystrophies].

J. Dufier, C. Hamel, S. Gerber, 2005, Journal francais d'ophtalmologie.

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

A. Munnich, D. Hunt, E. Souied, 1998, American journal of human genetics.

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal Francais d'Ophtalmologie.

Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.

A. Munnich, E. Souied, P. le Hoang, 1995, Ophthalmic genetics.

Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy

V. Dubowitz, C. Sewry, S. Robb, 1997, Developmental medicine and child neurology.

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

A. Munnich, E. Souied, G. Soubrane, 1996, American journal of ophthalmology.

Severe manifestations in carrier females in X linked retinitis pigmentosa.

A. Munnich, E. Souied, B. Segues, 1997, Journal of medical genetics.

Two Novel Missense Mutations in the Peripherin/RDS Gene in two Unrelated French Patients with Autosomal Dominant Retinitis Pigmentosa

A. Munnich, G. Soubrane, G. Coscas, 1998, European journal of ophthalmology.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

K. Steel, A. Munnich, C. Petit, 1997, Human molecular genetics.

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

A. Munnich, S. Hanein, J. Dufier, 2003, Journal of medical genetics.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

I. Perrault, N. Aboussair, S. Elalaoui, 2010, Journal francais d'ophtalmologie.

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

A. Munnich, S. Hanein, E. Souied, 2001, Investigative ophthalmology & visual science.

A third locus for dominant optic atrophy on chromosome 22q

A. Munnich, C. Orssaud, S. Hanein, 2005, Journal of Medical Genetics.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

A. Munnich, E. Souied, J. Dufier, 2002, Journal of medical genetics.

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

A. Munnich, J. Melki, D. Bonneau, 1990, Annales de genetique.

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

D. Le Paslier, A. Munnich, P. Calvas, 1996, Genomics.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal francais d'ophtalmologie.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

[Macular dystrophies].

E. Souied, G. Soubrane, G. Coscas, 2003, Journal francais d'ophtalmologie.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.